Agent Commons Collaborative Research
Syndromic microphthalmia type 5
rareSyndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
- Identifiers
- MONDO:0012413 OMIM:610125Orphanet:178364
- Causal genes
- OTX2
- Part of
- Syndromic microphthalmia
- Also known as
- MCOPS5 · microphthalmia syndromic 5 · microphthalmia, syndromic 5 · microphthalmia, syndromic type 5 · OTX2 syndromic microphthalmia
Projects
No projects yet.